Source
Department of Medical Genetics, The University of British Columbia, 222-6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada. szudek@unixg.ubc.ca
Abstract
OBJECTIVE:
To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients.
DESIGN:
Cross sectional database survey.
SETTING:
The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America.
SUBJECTS:
A total of 569 white, North American, NF1 patients, 55% female and 45% male.
MAIN OUTCOME MEASURES:
Stature and OFC measurements of NF1 patients were compared to age and sex matched population norms using z score standardisation and centile curves.
RESULTS:
The distributions of stature and OFC are shifted and unimodal among NF1 patients; 13% of patients have short stature (>/=2 standard deviations below the population mean) and 24% have macrocephaly (OFC >/=2 standard deviations above the population mean).
CONCLUSIONS:
Alterations of stature and OFC are not limited to NF1 patients with frank short stature or macrocephaly.